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Part 1Part 1
Chromosomes and Cell CycleChromosomes and Cell Cycle
MitosisMitosisMeiosisMeiosis
Mitosis and Meiosis ComparisonMitosis and Meiosis Comparison
Chromosome InheritanceChromosome Inheritance
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Chromosomes and Cell CycleChromosomes and Cel
l CycleHumans have 46 chromosomes (23 pairs). Twenty-two pairs are identified as
autosomes, meaning they are all chromosomes except the sex
chromosomes. The sex chromosomes are known as XY (male) and XX(female). These chromosomes account for the other pairs.
Any cell with a nucleus can be examined to see a persons chromosomes. Acomputer aids in the arrangement of chromosomes; the display is known asKARYOTYPE. Every body cell contains all 46 chromosomes. This is because of
a type of cell division known as MITOSIS.
Each pair of chromosomes appears to be pinched, or held together, by aCENTROMERE. In dividing cells, a pair of chromosomes has SISTER CHROMATIDS,
46 chromosomes ofmale
Pictures fromHuman Biologyby Sylvia S.Mader page378
Male sexchromosomes XY
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romosomes an e yc eContinuedContinued
CELL CYCLE:CELL CYCLE: Interphase, mi
tosis, and cytokinesis are the three stages of aInterphase, mitosis, and cytokinesis are the three stages of acell cycle.cell cycle.
INTERPHASE:INTERPHASE: DNA synthesisDNA synthesis
and cell growth occur. Thisand cell growth occur. Thispart of the cell cycle is thepart of the cell cycle is thelongest and is broken uplongest and is broken upinto three stages.into three stages.
1. G1 Stage:1. G1 Stage: OrganellesOrganelles
double, material collecteddouble, material collectedfor DNA replication andfor DNA replication andchromatin conversion.chromatin conversion.
2. S Stage:2. S Stage: DNA replicatesDNA replicatesproducing duplicatedproducing duplicated
chromosomes.chromosomes.3. G2 Stage:3. G2 Stage: proteins areproteins are
synthesized in preparationsynthesized in preparationfor cell division.for cell division.
CELL DIVISION:CELL DIVISION: After the interphaseAfter the interphase
stage is complete, the cell will enterstage is complete, the cell will enterthe division stage which consists of Mthe division stage which consists of M(mitotic) and cytokinesis.(mitotic) and cytokinesis.
MITOSIS:MITOSIS: A type of cell division whereA type of cell division whereall new nucleus contain a duplicatedall new nucleus contain a duplicated
copy as that of its parent cell. It willcopy as that of its parent cell. It willhave the same number and kind ofhave the same number and kind ofchromosomes.chromosomes.
CYTOKINESIS:CYTOKINESIS: Cytoplasm divisionCytoplasm divisionoccurring after mitosis.occurring after mitosis.
Picture from Human Biology by Sylvia S. Mader page
Picture showsCell CycleProcess
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Chromosomes and Cell CycleChromosomes and Cell Cycle
MitosisMitosis
MeiosisMeiosisMitosis and Meiosis ComparisonMitosis and Meiosis Comparison
Chromosome InheritanceChromosome Inheritance
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MitosisMitosisDuring the mitosis process, the sister chromatids break apart and becomechromosomes. They will become the chromosomes in two nuclei known as
daughter cells. Sister chromatids possess the same genes, as well asidentical genes of their parent cell.
Spindle Cycle:
Spindle Cycle: During mitosis, a separateDuring mitosis, a separatecycle pertaining to the manufacturing ofcycle pertaining to the manufacturing ofcentrosomes is occurring. Centrosomescentrosomes is occurring. Centrosomesduplicate, separate, and then formduplicate, separate, and then form polespoles..
This is where theThis is where the spindle fibersspindle fibers are made,are made,and eventually where theand eventually where the chromosomeschromosomesare attached to the fibers.are attached to the fibers. CentriolesCentrioles areareshort microtubules in theshort microtubules in the centrosomescentrosomes. A. ADIPLOIDDIPLOID is the complete quantity ofis the complete quantity ofchromosomes (2n).chromosomes (2n).
Picture fromHuman Biologyby Sylvia S.Mader page
Parent Cell
Sister
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Phases of Mitosis:Phases of Mitosis:There are four phases of mitosisThere are four phases of mitosis2. Metaphase:2. Metaphase: Breakage ofBreakage of
nuclear envelope. Spindle fibersnuclear envelope. Spindle fibers
migrate to area of where nucleusmigrate to area of where nucleus
was and chromosomes center inwas and chromosomes center inthe middle.the middle.
3. Anaphase:3. Anaphase:Centromeres divide, theCentromeres divide, the
chromatids splitchromatids split
becoming daughterbecoming daughterchromosomes andchromosomes and
move away from eachmove away from eachother. Theother. The
chromosomes movechromosomes move
towards each pole totowards each pole toensure each daughterensure each daughter
cell will have the samecell will have the same
number and kind ofnumber and kind ofchromosomes as thechromosomes as the
parent cell.parent cell.
1. Prophase:1. Prophase: Centrosomes duplicate outsideCentrosomes duplicate outsidenucleus and move to opposite ends. Spindlenucleus and move to opposite ends. Spindle
fibers appear in between the separated area,fibers appear in between the separated area,
envelope starts to break and the nucleolusenvelope starts to break and the nucleolus(responsible for ribosomal subunit production)(responsible for ribosomal subunit production)
disappears. Chromosomes are visible;disappears. Chromosomes are visible;positioned in nucleus.positioned in nucleus.
4. Telophase:4. Telophase: NucleoliNucleoliand nuclear envelopesand nuclear envelopes
reappear as daughterreappear as daughter
cells are developing.cells are developing.While theWhile the
chromosomes are atchromosomes are at
the poles they start tothe poles they start tobecome indistinctbecome indistinct
chromatin.chromatin.
----> EarlyMetaphase
Early Prophase toProphase
Metaphase
----> Anaphase ---->Telophase
Pictures from Human Biology by Sylvia S. Mader Pages 382-83
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Mitosis ContinuedMitosis ContinuedCYTOKINESIS:CYTOKINESIS: Cytoplasm andCytoplasm andorganelle division.organelle division. CLEAVAGECLEAVAGE
FURROWFURROW, indentation between cell, indentation between cellbefore it splits, occurs y pinchingbefore it splits, occurs y pinchingthe cell into two. Both cells havethe cell into two. Both cells have
their own plasma membrane.their own plasma membrane.
Cleavage Furrow
Pictures from Human Biologyby Sylvia S. Mader Pages383-84
The cell cycle willThe cell cycle willproduce cells to anproduce cells to anextent; however, if theextent; however, if the
cell cycle system doescell cycle system doesnot function correctly itnot function correctly it
can create a benign orcan create a benign orcancerous tumor. Thecancerous tumor. Thecell cycle responds tocell cycle responds tohormones, growthhormones, growthfactors, and repairsfactors, and repairswounds. The side picturewounds. The side pictureshows how the cell cycleshows how the cell cycle
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Chromosomes and Cell CycleChromosomes and Cell Cycle
MitosisMitosis
MeiosisMeiosisMitosis and Meiosis ComparisonMitosis and Meiosis Comparison
Chromosome InheritanceChromosome Inheritance
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Meiosis:Meiosis: Part of sexual reproductionPart of sexual reproductionChromosomes which look the same and carry the same genes are called
HOMOLOGOUS CHROMOSOMES. During the meiosis process, there are two divisionphases: meiosis I and meiosis II/fertilization. Meiosis is an important function in sexual
reproduction because it ensures diversity in changing environments.
MEIOSIS I:MEIOSIS I: The homologous pairsThe homologous pairsarrange together, known asarrange together, known as
SYNAPSIS. After synapsis occursSYNAPSIS. After synapsis occursthey separate into sisterthey separate into sister
chromatids.chromatids.
MEIOSIS II/FERTILIZAYION:Centromeres divide, sister
chromatids separate. Result isdaughter chromosomes. Once
the daughter cells mature theybecome GAMETES, or sex cells.They then combine during a
process known asFERTILIZATION. The ZYGOTE isthe first cell in a new being and
has all of the number ofPicture from Human Biology by Sylvia S. Mader page
INTERKINESIINTERKINESISS is the timeis the timebetween thebetween thetwo periods.two periods.
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Meiosis ContinuedMeiosis Continued Meiosis is broken down into two stages: Prophase I and MetaphaseMeiosis is broken down into two stages: Prophase I and Metaphase
I.I.PROPHASE I:PROPHASE I: Synapsis takes place,Synapsis takes place,spindle emerge, breakage of nuclearspindle emerge, breakage of nuclearenvelope, nucleolus disappears. Aenvelope, nucleolus disappears. Aprocess known asprocess known as CROSSING-OVERCROSSING-OVERtakes place where nonsistertakes place where nonsisterchromatids split apart and then fusechromatids split apart and then fuse
with the other chromatids to formwith the other chromatids to formchromosomes with mixed genes.chromosomes with mixed genes.
METAPHASE I:METAPHASE I: Pairs align atPairs align atequator and maternal or parentalequator and maternal or parentalmembers can be ordered in amembers can be ordered in anumber of different combinations.number of different combinations.
Picture from Human Biologyby Sylvia S. Mader page 386
Pictures illustrates differentpairings during Metaphase I
Crossing-over ofchromatids
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Chromosomes and Cell CycleChromosomes and Cell Cycle
MitosisMitosis
MeiosisMeiosisMitosis and MeiosisMitosis and Meiosis
ComparisonComparisonChromosome InheritanceChromosome Inheritance
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Mitosis and Meiosis ComparisonMitosis and Meiosis ComparisonMITOSISMITOSIS
One nuclear divisionOne nuclear division
Two daughter cells afterTwo daughter cells aftercytokinesiscytokinesis
Cells are diploid; sameCells are diploid; samechromosome number as parentchromosome number as parentcellcell
Genetically identical daughterGenetically identical daughtercells (of each other and parentcells (of each other and parentcell)cell)
Takes place during growth/repairTakes place during growth/repairof all tissues constantlyof all tissues constantly
During metaphase the individualDuring metaphase the individualchromosomes arrange in a line atchromosomes arrange in a line atequator (contain 2 chromatids)equator (contain 2 chromatids)
Sister chromatids becomeSister chromatids become
chromosomes after breakingchromosomes after breakingaway from centromeres; migrateaway from centromeres; migrate
MEIOSISMEIOSIS
Two nuclear divisionTwo nuclear division
Four daughter cells after cytokinesisFour daughter cells after cytokinesis
Cells are haploid; half theCells are haploid; half thechromosome number of parent cellchromosome number of parent cell
Not genetically identical daughterNot genetically identical daughter
cells (of each other or parent cell)cells (of each other or parent cell) Takes place in reproductive organsTakes place in reproductive organsduring reproducing time periodsduring reproducing time periods
Like kind chromosomes pairLike kind chromosomes pairtogether and undergo crossing-overtogether and undergo crossing-over
During metaphase I homologousDuring metaphase I homologouschromosomes arrange in a line atchromosomes arrange in a line atequator (contain 4 chromatids)equator (contain 4 chromatids)
Homologous chromosomes split andHomologous chromosomes split andmigrate away to opposite polesmigrate away to opposite poles
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Spermatogenesis & OogenesisSpermatogenesis & OogenesisSPERMATOGENESIS:SPERMATOGENESIS: Sperm productionSperm production
400 million sperm produced a day in the400 million sperm produced a day in the
testes.testes. Primary Spermatocytes: Diploid (2n)Primary Spermatocytes: Diploid (2n)
Secondary Spermatocytes: Haploid (n) TwoSecondary Spermatocytes: Haploid (n) Twochromatidschromatids
Spermatids: Two haploids split to four haploidSpermatids: Two haploids split to four haploid
(n) One chromatid each, eventually become(n) One chromatid each, eventually becomesperm with 23 chromosomes eachsperm with 23 chromosomes each
OOGENESIS:OOGENESIS: Egg productionEgg production
Ovaries possess immature follicles; each follicleOvaries possess immature follicles; each folliclepossess primary oocytepossess primary oocyte
Primary Oocyte: Diploid (2n) splits during meiosis I toPrimary Oocyte: Diploid (2n) splits during meiosis I to
haploidhaploid
Secondary Oocyte: Duplicated chromosomes, oneSecondary Oocyte: Duplicated chromosomes, one
receives majority of cytoplasm while the other becomesreceives majority of cytoplasm while the other becomes
the first polar body containing copied chromosomes.the first polar body containing copied chromosomes.
Begins meiosis II. Leaves ovary, enters oviduct, fertilizedBegins meiosis II. Leaves ovary, enters oviduct, fertilizedand completes Meiosis II. Egg has 23 chromosomes.and completes Meiosis II. Egg has 23 chromosomes.
Picture fromHumanBiology bySylvia S.
Mader Page392
Spermatogenesis
Oogenesis
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Chromosomes and Cell CycleChromosomes and Cell Cycle
MitosisMitosis
MeiosisMeiosisMitosis and Meiosis ComparisonMitosis and Meiosis Comparison
Chromosome InheritanceChromosome Inheritance
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Chromosome InheritanceChromosome InheritanceChanges in Chromosome NumbersChanges in Chromosome Numbers
If both homologous chromosome pair enterIf both homologous chromosome pair enterthe same daughter cell during meiosis I, or ifthe same daughter cell during meiosis I, or ifsister chromatids dont separate duringsister chromatids dont separate duringmeiosis II, this is known asmeiosis II, this is known as NONDISJUNCTIONNONDISJUNCTIONwhich results in too many or too fewwhich results in too many or too fewchromosomes.chromosomes.TRISOMY: 24 chromosome fertilized egg
MONOSOMY: 22 chromosome fertilized egg
BARR BODY: One X chromosome in femalebecomes darkly stained and inactive (TurnerSyndrome XO; do not undergo puberty,menstruation, or breast development)
During meiosis II, Jacobs syndrome occurs due tonondisjunction of spermatogenesis
Trisomy 21, known as down syndrome, is caused byan egg having two copies of chromosome 21,leading to a total of three copies
Klinefelter Syndrome (XXY) occurs in males and canproduce speech/language problems. May require
Picture from Human Biology by Sylvia S. Mader Page
Changes in Chromosome Numbersa
nges n romosome Num ers
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Changes in Chromosome Numbersanges n romosome Num ersContinuedContinued
PLOY-X FEMALES:PLOY-X FEMALES: Three/four X chromosomes, extra Barr bodies. May produceThree/four X chromosomes, extra Barr bodies. May producemotor/language problems. Usually have normal menstruation and fertility.motor/language problems. Usually have normal menstruation and fertility.
Chromosome mutations can be attributedChromosome mutations can be attributedto many environmental causes (radiation,to many environmental causes (radiation,viruses, some chemicals).viruses, some chemicals).
Chromosome structure changes canChromosome structure changes can
include: deletion, duplication, inversion,include: deletion, duplication, inversion,and translation.and translation.
A. DELETION:A. DELETION: Chromosome ends severs orChromosome ends severs orwhen two severed parts result in segmentwhen two severed parts result in segmentloss.loss.
B. DUPLICATION:B. DUPLICATION: duplicated segment in oneduplicated segment in onechromosome.chromosome.
C. INVERSION:C. INVERSION: chromosome segmentchromosome segmentturned 180 degrees.turned 180 degrees.
D. TRANSLOCATION:D. TRANSLOCATION: A chromosomeA chromosomesegment switch occurs betweensegment switch occurs betweenPicture from Human Biology by Sylvia S. Mader Page
397
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Chromosome Changes ContinuedChromosome Changes Continued
DELETION SYNDROMES:DELETION SYNDROMES: Williams Syndrome occursWilliams Syndrome occurs
when chromosome 7s end piece breaks off. Proteinwhen chromosome 7s end piece breaks off. Proteinelastin is not produced to missing gene, affecting skinelastin is not produced to missing gene, affecting skinand cardiovascular system. Cri du chat Syndrome occursand cardiovascular system. Cri du chat Syndrome occurs
when chromosome 5s end piece breaks off. Produceswhen chromosome 5s end piece breaks off. Producesfacial and head size abnormalities as well as mentalfacial and head size abnormalities as well as mental
retardation.retardation.
TRANSLOCATION SYNDROMES:TRANSLOCATION SYNDROMES: Allele breakage in twoAllele breakage in twoplaces. Translocation between chromosomes can beplaces. Translocation between chromosomes can be
responsible for physical abnormalities as well asresponsible for physical abnormalities as well as
cancers.cancers.
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Cancer CellsCancer CellsCancer: Causes and PreventionCancer: Causes and Prevention
Cancer DiagnosisCancer Diagnosis
Cancer TreatmentCancer Treatment
Part 2Part 2
llC C ll
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Cancer Cells:Cancer Cells: CharacteristicsCharacteristicsLack Differentiation:Lack Differentiation: Cancer cells do not look like tissue cells nor do they have aCancer cells do not look like tissue cells nor do they have aspecific duty in body functions.specific duty in body functions.
Abnormal Nuclei:Abnormal Nuclei: Enlarged nuclei which may possess irregular chromosome numbersEnlarged nuclei which may possess irregular chromosome numbers
and abnormal chromosomes.and abnormal chromosomes.
Replicative Potential:Replicative Potential: Cancer cells are unlimited in replication and have the ability toCancer cells are unlimited in replication and have the ability torebuild telomerase.rebuild telomerase.
Form Tumors:Form Tumors:Tumors are formed because the cancer cells layer themselves whileTumors are formed because the cancer cells layer themselves whilecontinuing to grow.continuing to grow.
Growth Factors:Growth Factors: Cancer cells do not respond to growth factors, therefore they do notCancer cells do not respond to growth factors, therefore they do notstop duplicating.stop duplicating.
Cells Become Abnormal:Cells Become Abnormal: Cancer development has three stages, initiation, promotion,Cancer development has three stages, initiation, promotion,and progression; the development is known asand progression; the development is known as CARCINOGENESISCARCINOGENESIS..
Angiogenesis:Angiogenesis: Formation of new blood vessels to aid in distribution of oxygen andFormation of new blood vessels to aid in distribution of oxygen and
nutrients to cancer cells.nutrients to cancer cells.
Metastasis: Cancer cells have the ability to invade and spread to other portions of theMetastasis: Cancer cells have the ability to invade and spread to other portions of thebody away from its initial place of development. Tissue becomes invaded after cancerbody away from its initial place of development. Tissue becomes invaded after cancercells produce proteinase enzymes which cause membrane degradation.cells produce proteinase enzymes which cause membrane degradation.
Cancer cells do not undergoCancer cells do not undergo APOPTOSISAPOPTOSIS, or cell death. TELOMERES is a repetitive DNA, or cell death. TELOMERES is a repetitive DNA
sequence at the ends of chromosomes which aids in helping cells reproduce bysequence at the ends of chromosomes which aids in helping cells reproduce by
protecting chromosomes. Eventually telomeres get shortened, leading to apoptosis.protecting chromosomes. Eventually telomeres get shortened, leading to apoptosis.BENIGN TUMORSBENIGN TUMORS are usually encircled by a capsule, butare usually encircled by a capsule, but CANCER IN SITUCANCER IN SITU is not alwaysis not always
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Cancer Cells:Cancer Cells: Caused by Genetic DiseaseCaused by Genetic Disease
PROTO-ONCO GENES:PROTO-ONCO GENES: Promote cell reproduction, stops apoptosis, producePromote cell reproduction, stops apoptosis, produceacceleration of cell division. When these genes mutate they becomeacceleration of cell division. When these genes mutate they becomeONCOGENESONCOGENES, or cancer initiating. When a signal activates a cell to divide, it, or cancer initiating. When a signal activates a cell to divide, itis known as ais known as a GROWTH FACTORGROWTH FACTOR. Proto-oncogenes have the ability to code for. Proto-oncogenes have the ability to code forgrowth factors. They can also turn ongrowth factors. They can also turn on CYCLINCYCLIN, a cell cycle protein, which, a cell cycle protein, whichencourages mitosis. A proto-oncogene also has the ability to code for aencourages mitosis. A proto-oncogene also has the ability to code for a
protein which makes P53, a protein which encourages apoptosis, unavailable.protein which makes P53, a protein which encourages apoptosis, unavailable.
TUMOR-SUPPRESSOR GENES:TUMOR-SUPPRESSOR GENES: Slows cell reproduction and encouragesSlows cell reproduction and encouragesapoptosis. The mutated gene generations lack certain proteins that haveapoptosis. The mutated gene generations lack certain proteins that havefunctions related to apoptosis and cell cycle.functions related to apoptosis and cell cycle.
Gene MutationsGene Mutations
Picture fromHuman Biology
by Sylvia S.
Normal Precancerou Cancerous
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Types of CancerTypes of Cancer
OncologyOncology is the study of cancer and anis the study of cancer and an oncologistoncologist is ais adoctor who specialize in the field of cancer. Breast anddoctor who specialize in the field of cancer. Breast and
prostate cancer seem to be the more popular cancers inprostate cancer seem to be the more popular cancers inhumans; however, lung and bronchus cancer causedhumans; however, lung and bronchus cancer caused
more deaths than the latter cancers.more deaths than the latter cancers.
CARCINOMAS:CARCINOMAS: Epithelial tissue cancer (Examples:Epithelial tissue cancer (Examples:
Breast, intestines, liver, lungs, prostate, skin, andBreast, intestines, liver, lungs, prostate, skin, andthyroid)thyroid)
ANDOCARCINOMAS:ANDOCARCINOMAS: Glandular epithelial cell cancerGlandular epithelial cell cancer
SARCOMAS:SARCOMAS: Muscle and connective tissue cancerMuscle and connective tissue cancer
(Examples: Bone and fibrous tissues)(Examples: Bone and fibrous tissues)
LEUKEMIAS:LEUKEMIAS: Blood cancerBlood cancer
LYMPHOMAS:LYMPHOMAS: Lymphatic tissue cancerLymphatic tissue cancer
Carcinoma of breast:Pale area at center
Picture fromhttp://en.wikipedia.org/wiki/Breast_cancer
This 4-cm mature cystic teratoma of the ovarywas found incidentally at the time of Caesarean
section and removed. Like most ovarianteratomas (and unlike those of the testis) thisone was benign, showing only mature tissues
microscopically. In addition to the obviouscutaneous structures (giving rise to the hair
seen here), histologically there was abundantneuroglia and even one neuron. Central nervous
Picture andverbiage from
http://en.wikipedia.org/wiki/Ovarian_cancer
http://upload.wikimedia.org/wikipedia/commons/a/a5/Mature_cystic_teratoma_of_ovary.jpghttp://upload.wikimedia.org/wikipedia/commons/a/a5/Mature_cystic_teratoma_of_ovary.jpghttp://upload.wikimedia.org/wikipedia/commons/a/a5/Mature_cystic_teratoma_of_ovary.jpghttp://en.wikipedia.org/wiki/Image:Breast_cancer_gross_appearance.jpg8/14/2019 Compendium Review Genetics Part 1
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Cancer CellsCancer Cells
Cancer: Causes and PreventionCancer: Causes and Prevention
Cancer DiagnosisCancer DiagnosisCancer TreatmentCancer Treatment
d i
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Cancer: Causes and PreventionCancer: Causes and PreventionHEREDITY:HEREDITY: Children inherit two copies of every gene, one copy being fromChildren inherit two copies of every gene, one copy being fromeach of their parents. The chance of getting cancer is increased if both copieseach of their parents. The chance of getting cancer is increased if both copiesare mutated. If only one copy is mutated, cancer will only develop where andare mutated. If only one copy is mutated, cancer will only develop where and
when the second copy mutates (tumor-suppressing genes). Some proto-when the second copy mutates (tumor-suppressing genes). Some proto-oncogene mutations can cause cancer with only one mutated gene, such as aoncogene mutations can cause cancer with only one mutated gene, such as aRET gene.RET gene.
ENVIRONMENTAL CARCINOGENS:ENVIRONMENTAL CARCINOGENS: Mutations can be caused by substancesMutations can be caused by substancesknown asknown as MUTAGENMUTAGEN. A carcinogen is a mutagen because it is known to cause. A carcinogen is a mutagen because it is known to cause
mutations. Different types of radiation, from UV light to radon gas can disturbmutations. Different types of radiation, from UV light to radon gas can disturbDNA and lead to mutations. The radiation from the atomic bomb left toDNA and lead to mutations. The radiation from the atomic bomb left togeneration after generation of mutations for the people who were in thegeneration after generation of mutations for the people who were in thevicinity of the radiation. Organic chemicals found in tobacco are responsiblevicinity of the radiation. Organic chemicals found in tobacco are responsiblefor mutations and protein suppressing (p53). Also, pollutants found in thefor mutations and protein suppressing (p53). Also, pollutants found in theenvironment such as pesticides and asbestos have been linked to mutation ofenvironment such as pesticides and asbestos have been linked to mutation of
genes and cancers. Lastly, the following viruses have been linked as possiblygenes and cancers. Lastly, the following viruses have been linked as possiblycancer causing: hepatitis B and C, Epstein-Barr, and HPV.cancer causing: hepatitis B and C, Epstein-Barr, and HPV.
DIETARY CHOICES:DIETARY CHOICES: Evidence has shown that high-fat diets, especially onesEvidence has shown that high-fat diets, especially oneswith a plethora of refined foods, lead to obesity and may contribute towith a plethora of refined foods, lead to obesity and may contribute tonegative effects on human systems. Proper nutrition and exercise may helpnegative effects on human systems. Proper nutrition and exercise may help
to decrease ones chance of developing certain cancers; consuming high-fiberto decrease ones chance of developing certain cancers; consuming high-fiberfoods, taking vitamins, avoiding tobacco, alcohol, unprotected sun exposure,foods, taking vitamins, avoiding tobacco, alcohol, unprotected sun exposure,
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Cancer CellsCancer Cells
Cancer: Causes and PreventionCancer: Causes and Prevention
Cancer DiagnosisCancer DiagnosisCancer TreatmentCancer Treatment
C Di iC
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Cancer DiagnosisCancer DiagnosisThere are 7 warning signs publicized by the American Cancer Society:There are 7 warning signs publicized by the American Cancer Society:
CAUTIONCAUTION
C: Change in bowel or bladder movementsC: Change in bowel or bladder movementsA: A sore that does not healA: A sore that does not heal
U: Unusual bleeding or dischargeU: Unusual bleeding or discharge
T: Thickening or lump in breast or elsewhereT: Thickening or lump in breast or elsewhere
I: Indigestion or difficulty in swallowingI: Indigestion or difficulty in swallowing
O: Obvious change in wart or moleO: Obvious change in wart or mole
N: Nagging cough or hoarsenessN: Nagging cough or hoarseness
Regular Screening/Tests: Regularly performing self-examinations forRegular Screening/Tests: Regularly performing self-examinations forbreast or testicular cancer will aid in cancer detection. Also, routine papbreast or testicular cancer will aid in cancer detection. Also, routine papsmear examinations help woman by checking for abnormalities in cervixsmear examinations help woman by checking for abnormalities in cervix
cells and advanced technologies has helped early detection of coloncells and advanced technologies has helped early detection of coloncancer through colonoscopy examinations. Other advanced technologiescancer through colonoscopy examinations. Other advanced technologies
which aid in early cancer detection are CAT and MRI scans,which aid in early cancer detection are CAT and MRI scans,mammography, ultrasounds, and x-raysmammography, ultrasounds, and x-rays..
C Di i C ti dC
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Picture from http://www.cancer.org/downloads/COM/05AprilPresentation.pdf
Cancer Diagnosis ContinuedCancer Diagnosis ContinuedThe American Cancer Society hasalso come out with the ABCD Rule
regarding Melanoma (skin tumors).
C Di i C ti dC Di
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Cancer Diagnosis ContinuedCancer Diagnosis ContinuedBlood, urine, and tissue tests known as TUMOR MARKER TESTS can be run toBlood, urine, and tissue tests known as TUMOR MARKER TESTS can be run todetermine if cancer exists. The body produces substances (tumor markers) indetermine if cancer exists. The body produces substances (tumor markers) inresponse to cancer growth. Tumor markers can be used to diagnose cancerresponse to cancer growth. Tumor markers can be used to diagnose cancer
and determine if cancer has returned in a patient.and determine if cancer has returned in a patient.
When researchingWhen researchingThe National Cancer InstitutesThe National Cancer Institutes website for information onwebsite for information onthe future of tumor marker tests, I found the following:the future of tumor marker tests, I found the following:
Cancer researchers are turning to proteomics (the study of protein shape,Cancer researchers are turning to proteomics (the study of protein shape,function, and patterns of expression) in hopes of developing better cancerfunction, and patterns of expression) in hopes of developing better cancer
screening and treatment options. Proteomics technology is being used toscreening and treatment options. Proteomics technology is being used tosearch for proteins that may serve as markers of disease in its early stages,search for proteins that may serve as markers of disease in its early stages,or predict the effectiveness of treatment or the chance of the diseaseor predict the effectiveness of treatment or the chance of the diseasereturning after treatment has ended.returning after treatment has ended.
Genetic testing for mutations, proto-oncogenes and tumor-suppressor genesGenetic testing for mutations, proto-oncogenes and tumor-suppressor genesare also helping with early detection of cancers.are also helping with early detection of cancers.
Early detection, prevention, and ability to cure cancers is becomingpossible through our advancements in science and technologies.
Quote from http://www.cancer.gov/cancertopics/factsheet/Detection/tumor-
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Cancer CellsCancer Cells
Cancer: Causes and PreventionCancer: Causes and PreventionCancer DiagnosisCancer Diagnosis
Cancer TreatmentCancer Treatment
C T t tC T t t
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Cancer TreatmentCancer Treatment
SurgerySurgery can remove cancer in situ and is usually followed up by alternativecan remove cancer in situ and is usually followed up by alternativemethods to ensure the extinction of the cancer incase any cells were leftmethods to ensure the extinction of the cancer incase any cells were leftbehind.behind.
Radiation therapyRadiation therapy is effective on cancer cells by disrupting their cell cycleis effective on cancer cells by disrupting their cell cycleand chromosomal breakage. Radiation targets specific areas where theand chromosomal breakage. Radiation targets specific areas where the
cancer is known to be growing.cancer is known to be growing.
ChemotherapyChemotherapy kills cancer cells by injuring their DNA or obstructing DNAkills cancer cells by injuring their DNA or obstructing DNAsynthesis. Chemotherapy is effective in that it travels throughout the wholesynthesis. Chemotherapy is effective in that it travels throughout the wholebody versus treating localized areas.body versus treating localized areas.
Surgery, radiation, and chemotherapy have all proven toSurgery, radiation, and chemotherapy have all proven tobe helpful in the fight against cancer.be helpful in the fight against cancer.
Chemotherapy can
spread to all parts ofthe body throughbloodstream
Radiation therapycan help targetlocalized sites
Pictures from Human Biology by Sylvia Mader Page 415 andhttp://www.urologychannel.com/bladdercancer/surgery.shtml
Pictures show A. bladder tumor B. Cutting
tumor
C T t t C ti dC T t t C ti d
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Cancer Treatments ContinuedCancer Treatments Continued
IMMUNOTHERAPY:IMMUNOTHERAPY: Different treatment tactics aiming to adjust ones immuneDifferent treatment tactics aiming to adjust ones immune
system to aid in preventing healing cancer. In cancer, immunotherapy triessystem to aid in preventing healing cancer. In cancer, immunotherapy triesto strengthen ones own immune system in hopes it will strengthen to fightto strengthen ones own immune system in hopes it will strengthen to fightagainst cancer. This is known asagainst cancer. This is known as ACTIVE IMMUNOTHERAPIESACTIVE IMMUNOTHERAPIES. Another. Another
strategy is calledstrategy is called PASSIVE IMMUNOTHERAPIESPASSIVE IMMUNOTHERAPIES which manufactures certainwhich manufactures certainantibodies of the immune system outside the body and then injects them intoantibodies of the immune system outside the body and then injects them into
the body to help fight cancer. Some of the antibodies have radioactivethe body to help fight cancer. Some of the antibodies have radioactive
material attached to them or are attached with chemotherapy drugs to helpmaterial attached to them or are attached with chemotherapy drugs to helpfight and poison cancer cells. Other antibodies are consideredfight and poison cancer cells. Other antibodies are considered NAKEDNAKED, not, notpossessing any attached drugs of radioactive materials, and are used bypossessing any attached drugs of radioactive materials, and are used by
attaching to cancer cells and signaling for their destruction.attaching to cancer cells and signaling for their destruction.
P53 Gene Therapy:P53 Gene Therapy: The p53 protein, which acts as a tumor suppressor byThe p53 protein, which acts as a tumor suppressor byinitiating apoptosis, changes in the presents of cancer; allowing cancer to runinitiating apoptosis, changes in the presents of cancer; allowing cancer to run
ramped. Scientists are working on a way to repair the damaged protein soramped. Scientists are working on a way to repair the damaged protein so
that it can function correctly in the presence of cancer.that it can function correctly in the presence of cancer.
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American Cancer Society. Immunotherapy. 14 Dec 2006. Accessed 3 Feb 2008.American Cancer Society. Immunotherapy. 14 Dec 2006. Accessed 3 Feb 2008...
American Cancer Society. Reducing The Risk of Skin Cancer. Apr 2005. Accessed 3 Feb 2008.American Cancer Society. Reducing The Risk of Skin Cancer. Apr 2005. Accessed 3 Feb 2008.
.
"Breast cancer.""Breast cancer." Wikipedia, The Free EncyclopediaWikipedia, The Free Encyclopedia. 7 Feb 2008, 03:01 UTC. Wikimedia Foundation,. 7 Feb 2008, 03:01 UTC. Wikimedia Foundation,Inc. 3 FebInc. 3 Feb 20082008
.
Mader, Sylvia S.Mader, Sylvia S. Human BiologyHuman Biology. New York: The McGraw-Hill Companies, Inc, 2008. Pages. New York: The McGraw-Hill Companies, Inc, 2008. Pages 378-418.
National Cancer Institute. Tumor Markers: Questions and Answers. Accessed 2 Feb 2008.National Cancer Institute. Tumor Markers: Questions and Answers. Accessed 2 Feb 2008.
..
"Ovarian cancer.""Ovarian cancer." Wikipedia, The Free EncyclopediaWikipedia, The Free Encyclopedia. 2 Feb 2008, 00:21 UTC. Wikimedia. 2 Feb 2008, 00:21 UTC. WikimediaFoundation, Inc. 2 FebFoundation, Inc. 2 Feb 20082008
.
Urology Channel. Bladder Cancer. Healthcommunities.com, Inc. 27 Nov 2007. 2 Feb 2008.Urology Channel. Bladder Cancer. Healthcommunities.com, Inc. 27 Nov 2007. 2 Feb 2008.
..
Works CitedWorks Cited
http://www.cancer.org/downloads/COM/05AprilPresentation.pdfhttp://www.cancer.org/downloads/COM/05AprilPresentation.pdfhttp://en.wikipedia.org/w/index.php?title=Breast_cancer&oldid=189654770http://en.wikipedia.org/w/index.php?title=Breast_cancer&oldid=189654770http://en.wikipedia.org/w/index.php?title=Ovarian_cancer&oldid=188496524http://en.wikipedia.org/w/index.php?title=Ovarian_cancer&oldid=188496524http://en.wikipedia.org/w/index.php?title=Ovarian_cancer&oldid=188496524http://en.wikipedia.org/w/index.php?title=Breast_cancer&oldid=189654770http://www.cancer.org/downloads/COM/05AprilPresentation.pdf